A specific mutation in TBL1XR1 causes Pierpont syndrome.
J Med Genet
; 53(5): 330-7, 2016 05.
Article
in En
| MEDLINE
| ID: mdl-26769062
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Repressor Proteins
/
Nuclear Proteins
/
Gene Expression
/
Receptors, Cytoplasmic and Nuclear
/
Mutation, Missense
/
Lipomatosis
Type of study:
Etiology_studies
/
Prognostic_studies
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
J Med Genet
Year:
2016
Type:
Article
Affiliation country:
Netherlands